hrp0092p1-281 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Virilization of a Girl at Puberty Due to a Unique Translocation of an Abnormal Duplicated Y-Chromosome to a Deleted Chromosome 9 Including the DMRT1 Gene

Graf Stefanie , Aliu Nijas , Zeino Mazen , Flueck Christa E.

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...